title: Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.
abstract: Beare-Stevenson syndrome (BSS) is a rare autosomal-dominant condition characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and a prominent umbilical stump. In 1996, two mutations in the fibroblast growth factor receptor 2 gene were found to cause this syndrome, thereby including BSS in the fibroblast growth factor receptor gene-related craniosynostosis spectrum. Until now, 12 patients with fibroblast growth factor receptor 2 gene-related BSS have been described. We report what is to our knowledge the first 2 Dutch patients with this syndrome, both caused by the mutation Tyr375Cys in the fibroblast growth factor receptor 2 gene. The patients exhibited a simplified gyral pattern, an abnormal posterior fossa, and an abnormal hippocampus on cranial magnetic resonance imaging. We discuss the clinical and radiologic findings in fibroblast growth factor receptor 2 gene-related BSS.
authors.affiliation: Department of Paediatric Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Daniela Q C M
authors.initials: DQ
authors.lastname: Barge-Schaapveld
authors.forename: Alice S
authors.initials: AS
authors.lastname: Brooks
authors.forename: Maarten H
authors.initials: MH
authors.lastname: Lequin
authors.forename: Rosalinda
authors.initials: R
authors.lastname: van Spaendonk
authors.forename: R Jeroen
authors.initials: RJ
authors.lastname: Vermeulen
authors.forename: Jan Maarten
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000002:abnormalities*; D003398:Craniosynostoses / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D012131:Respiratory Insufficiency / Q000209:etiology
chemical_list: D051497:Receptor, Fibroblast Growth Factor, Type 2